Rett syndrome: clinical correlates of the newly discovered gene

@article{Percy2001RettSC,
  title={Rett syndrome: clinical correlates of the newly discovered gene},
  author={Alan K. Percy},
  journal={Brain and Development},
  year={2001},
  volume={23},
  pages={s202-s205}
}
The recent identification of mutations in the gene, MECP2, in girls with Rett syndrome (RS) firmly establishes the molecular genetic basis of this X-linked dominant disorder. This discovery, with ramifications far beyond establishing the gene for RS, represents a dramatic conclusion to an intensive, decade-long search. MECP2 encodes a methyl-CpG-binding protein (MeCP2) involved in transcriptional silencing of a yet to be defined number and type of genes. The clinical spectrum of resultant… CONTINUE READING

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